Canonical Allele Identifier: CA385401106

Gene: STAT6

Linked Data

• MyVariant Identifiers: chr12:g.57501025C>G (hg19) ; chr12:g.57107242C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57107242C>G , CM000674.2:g.57107242C>G	GRCh38
NC_000012.11:g.57501025C>G , CM000674.1:g.57501025C>G	GRCh37
NC_000012.10:g.55787292C>G	NCBI36
NG_021272.1:g.9172G>C
NG_021272.2:g.29898G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300134.8:c.328G>C MANE Select	ENSP00000300134.3:p.Val110Leu
ENST00000553533.2:c.328G>C	ENSP00000451546.2:p.Val110Leu
ENST00000554764.6:c.*72G>C	ENSP00000451909.1:n.*72G>C
ENST00000640254.2:c.328G>C	ENSP00000491116.2:p.Val110Leu
ENST00000651176.1:c.328G>C	ENSP00000498693.1:p.Val110Leu
ENST00000300134.7:c.328G>C	ENSP00000300134.3:p.Val110Leu
ENST00000454075.7:c.328G>C	ENSP00000401486.3:p.Val110Leu
ENST00000537215.6:c.-3G>C	ENSP00000444530.2:n.-3G>C
ENST00000538913.6:c.-3G>C	ENSP00000445409.2:n.-3G>C
ENST00000543873.6:c.328G>C	ENSP00000438451.2:p.Val110Leu
ENST00000553397.5:c.328G>C	ENSP00000452203.1:p.Val110Leu
ENST00000553499.5:c.328G>C	ENSP00000451074.1:p.Val110Leu
ENST00000554764.5:c.*72G>C	ENSP00000451909.1:n.*72G>C
ENST00000555104.5:c.*72G>C	ENSP00000450510.1:n.*72G>C
ENST00000555641.1:n.333G>C
ENST00000555849.5:c.328G>C	ENSP00000452394.1:p.Val110Leu
ENST00000556155.5:c.328G>C	ENSP00000451742.1:p.Val110Leu
ENST00000556259.5:c.274G>C	ENSP00000452373.1:p.Val92Leu
NM_001178078.1:c.328G>C	NP_001171549.1:p.Val110Leu
NM_001178079.1:c.328G>C	NP_001171550.1:p.Val110Leu
NM_001178080.1:c.-3G>C	NP_001171551.1:n.-3G>C
NM_001178081.1:c.-3G>C	NP_001171552.1:n.-3G>C
NM_003153.4:c.328G>C	NP_003144.3:p.Val110Leu
NR_033659.1:n.495G>C
XM_006719574.1:c.328G>C	XP_006719637.1:p.Val110Leu
XM_006719575.1:c.328G>C	XP_006719638.1:p.Val110Leu
XM_011538703.1:c.328G>C	XP_011537005.1:p.Val110Leu
XM_011538704.1:c.328G>C	XP_011537006.1:p.Val110Leu
XM_011538705.1:c.328G>C	XP_011537007.1:p.Val110Leu
XM_011538706.1:c.328G>C	XP_011537008.1:p.Val110Leu
XM_011538707.1:c.328G>C	XP_011537009.1:p.Val110Leu
XM_011538708.1:c.-3G>C	XP_011537010.1:n.-3G>C
XM_011538709.1:c.-3G>C	XP_011537011.1:n.-3G>C
XM_011538703.3:c.328G>C	XP_011537005.1:p.Val110Leu
XM_011538704.3:c.328G>C	XP_011537006.1:p.Val110Leu
XM_011538705.3:c.328G>C	XP_011537007.1:p.Val110Leu
XM_011538707.3:c.328G>C	XP_011537009.1:p.Val110Leu
XM_011538708.3:c.-3G>C	XP_011537010.1:n.-3G>C
NM_003153.5:c.328G>C MANE Select	NP_003144.3:p.Val110Leu
NM_001178078.2:c.328G>C	NP_001171549.1:p.Val110Leu
NM_001178079.2:c.328G>C	NP_001171550.1:p.Val110Leu
NM_001178080.2:c.-3G>C	NP_001171551.1:n.-3G>C
NM_001178081.2:c.-3G>C	NP_001171552.1:n.-3G>C
NR_033659.2:n.444G>C